De novo mutations in human genetic disease
De novo mutations in human genetic disease
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Key Points
Traditional genetic approaches such as linkage analysis and genome-wide association studies are focused on inherited genetic variation. Unbiased whole-genome and whole-exome sequencing now, for the first time, allows us to study the role of
de novo
mutations in health and disease.
Each generation (per individual), approximate...
Alternative Titles
Full title
De novo mutations in human genetic disease
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1032892930
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1032892930
Other Identifiers
ISSN
1471-0056
E-ISSN
1471-0064
DOI
10.1038/nrg3241
